UPA Perpustakaan Universitas Jember

Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources

Ellen Zirkelbach 1,2 - Personal Name
Syed Hashmi 3 - Personal Name
Aarti Ramdaney 1 - Personal Name
Leslie Dunnington 4 - Personal Name
Myla Ashfaq 4 - Personal Name
Elizabeth K. Nugent 5 - Personal Name
Kate Wilson 6 - Personal Name

Variant interpretation is a complex process, and classification may vary between sources. This study aimed to determine the practice
of cancer genetic counselors regarding discrepancies in variant interpretation and to identify concerns when counseling these
discrepancies. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority
of counselors (93%) had seen a variant interpretation discrepancy in practice. A large majority (96%) of respondents indicated that
they conducted their own research on reported variants. Most respondents cited variant databases as the most common resource
utilized in researching variants. Approximately 33% of counselors spent 45 min or more of extra time researching a discrepancy
compared to researching a variant with a single classification. When asked how they approached counseling sessions involving
variant interpretation discrepancies, the free responses emphasized that counselors considered family history, clinical information,
and psychosocial concerns, showing that genetic counselors tailored the session to each individual. Discrepancies in variant
interpretation are an ongoing concern for clinical cancer genetic counselors, as demonstrated by the fact that counselors desired
further resources to aid in addressing these discrepancies, including a centralized database (89%), guidelines from a major organi-
zation (88%), continuing education about the issue (74%), and functional studies (58%). Additionally, most respondents reported
that the ideal database would be owned by a non-profit organization (59%) and obtain information directly from laboratories (91%).
This investigation was the first to address these discrepancies from a clinical point of view. The study demonstrates that discrep-
ancies in variant interpretation are a concern for clinical cancer genetic counselors and outlines the need for additional support.

EB00000002349K Available

Detail Information

Series Title

Call Number

Publisher

: ,

Collation

Language

ISBN/ISSN

Classification

NONE

Detail Information

Content Type

Media Type

Carrier Type

Edition

Subject(s)

Cancer
Variant
Discrepancy
Concerns
Resources
Clinic
Database
Functional studies
Interpretation

Specific Detail Info

Statement of Responsibility

No other version available

Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources

UPA Perpustakaan

Merupakan Unit Pendukung Akademis (UPA) yang bersama-sama dengan unit lain melaksanakan Tri Dharma Perguruan Tinggi (PT) melalui menghimpun, memilih, mengolah, merawat serta melayankan sumber informasi kepada civitas akademika Universitas Jember khususnya dan masyarakat akademis pada umumnya.

VISI

UPA Perpustakaan Universitas Jember sebagai perpustakaan modern dengan layanan prima yang mampu menunjang visi Universitas Jember.

MISI

Menyelenggarakan pembinaan dan pengembangan ketersediaan bahan pustaka dan informasi ilmiah sesuai dengan kebutuhan pemustaka secara berkelanjutan

Meningkatkan kualitas dan sistem manajemen layanan perpustakaan secara professional dengan memanfaatkan teknologi informasi

Membina dan mengembangkan jaringan kerjasama dengan pusat-pusat informasi dan lembaga terkait dalam dan luar negeri

UPA Perpustakaan Universitas Jember

NPP. 3509212D1000001

Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources

Ellen Zirkelbach 1,2 - Personal NameSyed Hashmi 3 - Personal NameAarti Ramdaney 1 - Personal NameLeslie Dunnington 4 - Personal NameMyla Ashfaq 4 - Personal NameElizabeth K. Nugent 5 - Personal NameKate Wilson 6 - Personal Name

Series Title

Call Number

Publisher

Collation

Language

ISBN/ISSN

Classification

Content Type

Media Type

Carrier Type

Edition

Subject(s)

Specific Detail Info

Statement of Responsibility

About Us

UPA Perpustakaan

LAYANAN DISTRIBUSI TUGAS AKHIR

Antrian Distribusi Tugas Akhir Hari ini : 25

MENUNGGU

0

PROSES

0

SELESAI

25

Statistik Distribusi Tugas Akhir

7 Hari Terakhir

per Fakultas

Total Koleksi

Total Item

Total Member

Total Pustakawan

Total Terpinjam

Peminjaman Tahun 2025

Peminjaman 5 Tahun

Peminjaman Bulan July 2025

Total Pengunjung

Pengunjung Tahun 2025

Pengunjung 5 Tahun Terakhir

Pengunjung Bulan July 2025

New collection + Update

Evaluasi Implementasi Sistem Manajemen Keselamatan Pertambangan (SMKP) di PT. Hasnur Riung Sinergi, Kalimantan Selatan

Karakteristik Pembakaran Biobriket dari Limbah Kulit Edamame Menggunakan Perekat Limbah Kulit Singkong

Pendugaan Potensi Air Tanah menggunakan Metode Terpadu (Pengindraan Jauh, Sistem Informasi Geografis dan Geo listrik) di Kabupaten Sumenep

Identifikasi Timbulan Limbah B3 Medis pada Puskesmas di Kabupaten Sidoarjo

Perencanaan Bioretensi sebagai Alternatif Penanggulangan Genangan Air di Perumahan Pesona Regency Kecamatan Patrang Kabupaten Jember

Representasi Nasionalisme dalam Novel Anak Badai Karya Tere Liye dan Pemanfaatannya untuk Penguatan Profil Pelajar Pancasila

Aplikasi Android

Our Services

Help Desk and Service Support UPA Perpustakaan

Tautan Pintas :

Jam Layanan :

Senin - Kamis:

Jum'at:

Sabtu dan Minggu:

Alamat & Kontak Info :

Jalan Kalimantan No. 37 - Kampus Bumi Tegalboto Kotak POS 159 Jember, Jawa Timur, 68121, Indonesia

library@unej.ac.id

(+62) 331 333860

Ellen Zirkelbach 1,2 - Personal Name
Syed Hashmi 3 - Personal Name
Aarti Ramdaney 1 - Personal Name
Leslie Dunnington 4 - Personal Name
Myla Ashfaq 4 - Personal Name
Elizabeth K. Nugent 5 - Personal Name
Kate Wilson 6 - Personal Name